What is this session about?
We will hear about projects to improve PCD diagnostics by defining its underlying genetic causes. Two researchers involved in these developments will briefly overview the contribution of genetics to modern PCD diagnostics, and describe two important initiatives to improve genetic diagnostics: (1) the BEAT-PCD ClinGen collaboration which aims to better understand and curate the full complement of PCD genes and define what we consider a disease-causing variant; (2) CiliaVar, a freely accessible online catalogue of PCD-causing gene variants and their association with specific clinical features.
About the Speakers:
Hannah is a Professor of Molecular Medicine at University College London. Her research group uses PCD patient sequencing and functional studies to understand the molecular genetic basis of PCD, bronchiectasis and male infertility. Her lab develops PCD diagnostic gene panels and RNA-based genetic therapies for PCD. Hannah co-chairs the ClinGen ‘Motile Ciliopathy’ Expert Panel with Marie Legendre and is part of the BEAT-PCD Work Package 2 team working to develop the CiliaVar database. She is in the UK Cilia Network leadership team and is chair of Ciliopathy Alliance, interacting regularly with patient groups as a science advisor.
Mafalda is doing her PhD in the Mitchison Lab at University College London, where her research focuses on advancing the understanding of the genetic causes of PCD. Her work combines cell culture techniques and bioinformatics analyses to unravel the complex mechanisms underlying PCD. She has a background in variant and gene curation, developed through her MSc in Genomic Medicine at Imperial College London and her work experience at Genomics England and Veritas Genetics, where she analysed Next Generation Sequencing data for the diagnosis and screening of various inherited disorders.
